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Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence

Abstract:
Background and Objectives Several countries have included medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in their newborn screening programs. However, the sensitivity of the programs cannot be estimated directly as only individuals with a positive result undergo a definitive diagnostic test. We propose a framework to overcome this limitation and estimate the prevalence of disease, sensitivity of screening, and its yield relative to no screening.

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Institution:
University of Oxford
Division:
MSD
Department:
Nuffield Department of Population Health
Sub department:
Population Health
Role:
Author
Publisher:
Elsevier
Journal:
Journal of Clinical Epidemiology
Volume:
67
Issue:
10
Pages:
1131-1138
Publication date:
2014-10-01
DOI:
EISSN:
1878-5921
ISSN:
0895-4356
Source identifiers:
489611
Language:
English
Keywords:
Pubs id:
pubs:489611
UUID:
uuid:b804e4b9-1af3-4943-82d7-2ebe4afa8580
Local pid:
pubs:489611
Deposit date:
2014-11-19

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